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P. Goetz-Reiner

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Open access Oct 2026

Increasing BIN1 or decreasing DNM2 worsens pathology in a mouse model of dysferlinopathy.

Dysferlinopathies are rare muscular dystrophies caused by loss-of-function variants in DYSF, which encodes dysferlin, leading to progressive muscle weakness. Although dysferlin is known for its role in membrane repair, emerging evidence suggests additional functions in membrane remodeling and T-tubule organization. The...

Alice Moncheaux, Emma Lafabrie, P. Goetz-Reiner et al. · 1 citation

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